Transient response to high‐dose niacin therapy in a patient with NAXE deficiency

Abstract Background NAXE‐encephalopathy or early‐onset progressive encephalopathy with brain edema and/or leukoencephalopathy‐1 (PEBEL‐1) and NAXD‐encephalopathy (PEBEL‐2) have been described recently as mitochondrial disorders causing psychomotor regression, hypotonia, ataxia, quadriparesis, ophtha...

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Autors principals:	Fatema Al‐Amrani, Khalid Al‐Thihli, Eiman Al‐Ajmi, Amna Al‐Futaisi, Fathiya Al‐Murshedi
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2024-07-01
Col·lecció:	JIMD Reports
Matèries:	COX2 inhibitors early onset progressive encephalopathy with brain edema and/or leukoencephalopathy −1 (PEBEL‐1) NAXD‐encephalopathy NAXE‐encephalopathy niacin PEBEL‐2
Accés en línia:	https://doi.org/10.1002/jmd2.12425
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